Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2022

Gamirova R G, Barkov A I, Shaimuchametova V A, Liukshina N G, Volkov I V, Tomenko T R, Rachmanina O A, Shestakova O I, Gorobets E A

Abstract excerpt

OBJECTIVE: To study the literature data and a series of our cases regarding the epilepsy clinic, electroencephalographic changes and other phenotypic features in X-linked intellectual disability (ID) caused by KIAA2022 mutations. MATERIAL AND METHODS: We analyzed the anamnesis of the disease, using medical records from different Russian medical organizations, as well as the results of the genealogical anamnesis,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anticonvulsants
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroencephalography

Share to Epilepsies, Myoclonic

Share to Epilepsy

Share to Genes, X-Linked

Share to Intellectual Disability

Share to Nerve Tissue Proteins

Source

Identifiers

PMID: 36170093
DOI: 10.17116/jnevro202212209214

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].PMID 36170093Read ↗

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.Semantic proximity Read ↗

Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.Semantic proximity Read ↗

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.Semantic proximity Read ↗

NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.Semantic proximity Read ↗

Seizures and X-linked intellectual disability.Semantic proximity Read ↗

CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature.Semantic proximity Read ↗

[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene].Semantic proximity Read ↗

X-Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.Semantic proximity Read ↗

A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.Semantic proximity Read ↗

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.Semantic proximity Read ↗

[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].Semantic proximity Read ↗

[Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.